MCID: MYT023
MIFTS: 57

Myotonia Congenita

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Myotonia Congenita

MalaCards integrated aliases for Myotonia Congenita:

Name: Myotonia Congenita 11 24 19 42 52 58 53 43 14 71 33
Congenital Myotonia, Autosomal Dominant Form 11 28 5
Congenital Myotonia 42 58 33
Thomsen and Becker Disease 19 58
Congenital Myotonic Muscular Dystrophy 33
Generalized Myotonia of Thomsen 71
Myotonia Congenita Nos 33
Thomsen's Disease 11
Thomsen Disease 11

Characteristics:


Inheritance:

Thomsen and Becker Disease: Autosomal dominant,Autosomal recessive 58

Prevelance:

Thomsen and Becker Disease: 1-9/100000 (Worldwide, Europe, Finland) 1-9/1000000 (Italy, United Kingdom, Netherlands) 58
Congenital Myotonia: 1-9/100000 (Worldwide) 58

Age Of Onset:

Thomsen and Becker Disease: Adolescent,Adult,Childhood,Infancy 58

Age Of Death:

Thomsen and Becker Disease: normal life expectancy 58

GeneReviews:

24
Penetrance Pathogenic variants identified in ad myotonia congenita can be associated with variable expression and reduced penetrance [sun et al 2001, colding-jørgensen 2005, brugnoni et al 2013, orsini et al 2020].

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:2106
ICD9CM 34 359.22
MeSH 43 D009224
NCIt 49 C84912
ICD10 via Orphanet 32 G71.1
UMLS via Orphanet 72 C0027127 C2936781
SNOMED-CT via HPO 69 274523007 3434004
ICD11 33 1916703439
UMLS 71 C0027127 C2936781

Summaries for Myotonia Congenita

MedlinePlus Genetics: 42 Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect.The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.

MalaCards based summary: Myotonia Congenita, also known as congenital myotonia, autosomal dominant form, is related to myotonia congenita, autosomal recessive and myotonia congenita, autosomal dominant, and has symptoms including muscular stiffness and lid lag. An important gene associated with Myotonia Congenita is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Lamotrigine and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, tongue and brain, and related phenotypes are myotonia and emg abnormality

GARD: 19 Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of Myotonia congenita: Becker disease, which is the most common and severe, generalized form; and Thomsen disease, which is a rare and milder form. Both forms are caused by genetic changes in the CLCN1 gene. The Becker type is inherited in an autosomal recessive manner, and the Thomsen type is inherited in an autosomal dominant manner. People with Myotonia congenita may be at increased risk for harmful side effects of anesthesia.

NINDS: 52 Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is caused by mutations in a gene responsible for shutting off electrical excitation in the muscles.

Disease Ontology: 11 A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

Orphanet: 58 A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).

GeneReviews: NBK1355

Related Diseases for Myotonia Congenita

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive

Diseases related to Myotonia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita, autosomal recessive 33.2 LOC123956257 CLCN1
2 myotonia congenita, autosomal dominant 33.1 LOC123956257 CLCN1
3 myotonia 32.1 SCN4A PRRT2 MSTN LOC108644431 DMPK CNBP
4 batten-turner congenital myopathy 32.0 SCN4A RYR1 CLCN1 CACNA1S
5 paramyotonia congenita of von eulenburg 31.7 SCN4A RYR1 KCNJ2 KCNJ18 KCNE3 DCAF8
6 endomyocardial fibrosis 31.6 SCN4A LOC123956257 CLCN1
7 myotonic dystrophy 1 31.1 RYR1 DMPK CNBP CLCN1 CACNA1S
8 malignant hyperthermia 30.7 SCN4A RYR1 CACNA1S
9 myotonic disease 30.6 SCN4A RYR1 DMPK CNBP CLCN1
10 periodic paralysis 30.4 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
11 hypokalemia 30.2 SCN4A KCNJ18 CLCNKB CACNA1S
12 isolated elevated serum creatine phosphokinase levels 30.2 SCN4A RYR1 CLCN1
13 neuromuscular disease 30.1 SCN4A RYR1 MSTN DMPK DCAF8 CNBP
14 myopathy 30.1 SCN4A RYR1 MSTN LOC108644431 DMPK DCAF8
15 brugada syndrome 30.0 SCN4A KCNJ2 KCNE3 CACNA1S
16 muscular disease 30.0 RYR1 MSTN DMPK CNBP CLCN1
17 hyperkalemic periodic paralysis 29.9 SCN4A RYR1 KCNJ2 KCNJ18 KCNE3 DCAF8
18 muscular dystrophy, congenital, lmna-related 29.8 RYR1 MSTN DMPK
19 myotonic dystrophy 2 29.7 SCN4A RYR1 LOC108644431 DMPK DCAF8 CNBP
20 hypokalemic periodic paralysis, type 1 29.4 SCN4A RYR1 KCNJ2 KCNJ18 KCNE3 DCAF8
21 myotonia, potassium-aggravated 11.7
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
23 muscle hypertrophy 10.5
24 immature cataract 10.3 DMPK CNBP
25 malignant hyperthermia of anesthesia 10.3 RYR1 CACNA1S
26 thyrotoxic periodic paralysis 10.2 KCNJ18 CACNA1S
27 hypophosphatemic rickets, x-linked recessive 10.2 CLCN7 CLCN5 CLCN4
28 myasthenia gravis 10.2
29 skeletal muscle disease 10.2
30 malignant hyperthermia susceptibility 10.2 RYR1 CACNA1S
31 graves disease 1 10.2 SCN4A KCNJ18 CACNA1S
32 spinal and bulbar muscular atrophy, x-linked 1 10.2 DMPK DCAF8 CNBP
33 king-denborough syndrome 10.2 RYR1 CACNA1S
34 metal metabolism disorder 10.2 SCN4A KCNJ18 CACNA1S
35 myopathy, congenital, bailey-bloch 10.2 RYR1 DCAF8 CACNA1S
36 renal tubular transport disease 10.2 CLCNKB CLCN5 CLCN4
37 long qt syndrome 5 10.2 KCNJ2 KCNE3
38 congenital structural myopathy 10.2 RYR1 DCAF8 CACNA1S
39 migraine with or without aura 1 10.1 SCN4A PRRT2 CLCN1 CACNA1S
40 x-linked hereditary ataxia 10.1 DMPK CNBP
41 multiminicore disease 10.1 RYR1 DCAF8 CACNA1S
42 nephrocalcinosis 10.1 CLCNKB CLCN7 CLCN5
43 congenital fiber-type disproportion 10.1 SCN4A RYR1 CACNA1S
44 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.1 KCNJ2 KCNJ18 CLCNKB
45 migraine, familial hemiplegic, 3 10.1 SCN4A PRRT2
46 hyaline body myopathy 10.1 RYR1 DCAF8
47 episodic kinesigenic dyskinesia 1 10.1
48 strabismus 10.1
49 hypothyroidism 10.1
50 esotropia 10.1

Graphical network of the top 20 diseases related to Myotonia Congenita:



Diseases related to Myotonia Congenita

Symptoms & Phenotypes for Myotonia Congenita

Human phenotypes related to Myotonia Congenita:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002486
2 emg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003457

UMLS symptoms related to Myotonia Congenita:


muscular stiffness; lid lag

GenomeRNAi Phenotypes related to Myotonia Congenita according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 CLCN3 CLCN7 CLCNKB CNBP DMPK KCNE3

MGI Mouse Phenotypes related to Myotonia Congenita:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 CACNA1S CLCN1 CLCN3 CLCN4 CLCN5 CLCN7
2 growth/size/body region MP:0005378 10.22 CACNA1S CLCN1 CLCN3 CLCN5 CLCN7 CLCNKB
3 muscle MP:0005369 10.11 CACNA1S CLCN1 CLCN3 DMPK KCNJ2 MSTN
4 cardiovascular system MP:0005385 9.96 CACNA1S CLCN3 CLCNKB DCAF8 DMPK KCNE3
5 behavior/neurological MP:0005386 9.93 CACNA1S CLCN1 CLCN3 CLCN7 CLCNKB CNBP
6 digestive/alimentary MP:0005381 9.91 CACNA1S CLCN3 CLCNKB KCNE3 KCNJ2 MSTN
7 craniofacial MP:0005382 9.87 CACNA1S CLCN5 CLCN7 CNBP KCNJ2 MSTN
8 respiratory system MP:0005388 9.5 CACNA1S CLCN7 DCAF8 KCNE3 KCNJ2 RYR1
9 skeleton MP:0005390 9.36 CACNA1S CLCN1 CLCN3 CLCN5 CLCN7 CLCNKB

Drugs & Therapeutics for Myotonia Congenita

Drugs for Myotonia Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Mexiletine Approved, Investigational Phase 3 5370-01-4, 31828-71-4 4178
3 Sodium Channel Blockers Phase 3
4 Diuretics, Potassium Sparing Phase 3
5 Calcium, Dietary Phase 3
6 Anticonvulsants Phase 3
7 Psychotropic Drugs Phase 3
8 Hormones Phase 3
9 Antipsychotic Agents Phase 3
10 calcium channel blockers Phase 3
11 Anti-Arrhythmia Agents Phase 3
12
Calcium Nutraceutical Phase 3 7440-70-2 271
13
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
2 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
3 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
4 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
5 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
6 Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia Recruiting NCT04799366

Search NIH Clinical Center for Myotonia Congenita

Cochrane evidence based reviews: myotonia congenita

Genetic Tests for Myotonia Congenita

Genetic tests related to Myotonia Congenita:

# Genetic test Affiliating Genes
1 Congenital Myotonia, Autosomal Dominant Form 28 CLCN1

Anatomical Context for Myotonia Congenita

Organs/tissues related to Myotonia Congenita:

MalaCards : Skeletal Muscle, Tongue, Brain

Publications for Myotonia Congenita

Articles related to Myotonia Congenita:

(show top 50) (show all 653)
# Title Authors PMID Year
1
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. 53 62 24 5
15162127 2004
2
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 53 62 24 5
11840191 2001
3
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. 53 62 24 5
8857733 1996
4
Novel muscle chloride channel mutations and their effects on heterozygous carriers. 53 62 24 5
8571958 1996
5
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita. 62 24 5
32117024 2020
6
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 62 24 5
29606556 2018
7
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. 62 24 5
23893571 2014
8
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 62 24 5
23739125 2013
9
Prevalence study of genetically defined skeletal muscle channelopathies in England. 62 24 5
23516313 2013
10
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 62 24 5
24349310 2013
11
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 62 24 5
21387378 2011
12
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 62 24 5
17932099 2007
13
Founder mutations and the high prevalence of myotonia congenita in northern Finland. 62 24 5
10430417 1999
14
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. 62 24 5
8857727 1996
15
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. 24 5
22407275 2012
16
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. 53 62 5
19697366 2010
17
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. 53 62 5
19949657 2009
18
Recessive CLCN1 mutation presenting as Thomsen disease. 53 62 5
18816629 2008
19
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. 24 5
18337730 2008
20
Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation. 53 62 5
18220014 2007
21
Exon 17 skipping in CLCN1 leads to recessive myotonia congenita. 53 62 5
15116370 2004
22
Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 53 62 5
12661046 2003
23
Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. 53 62 5
10690989 2000
24
Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita. 53 62 5
10533075 1999
25
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. 53 62 5
10215406 1998
26
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. 53 62 5
9122265 1997
27
Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family. 53 62 5
9040760 1997
28
Myotonia levior is a chloride channel disorder. 53 62 5
7581380 1995
29
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). 53 62 5
8112288 1994
30
Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents. 62 5
29480456 2018
31
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. 62 5
29935101 2018
32
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia. 62 5
29424939 2018
33
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease). 62 5
29405036 2017
34
Targeted Next Generation Sequencing in patients with Myotonia Congenita. 62 5
28427807 2017
35
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. 62 5
27614575 2016
36
Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. 62 5
27580824 2016
37
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia. 62 5
27582597 2016
38
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 62 5
26502825 2015
39
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 62 5
26096614 2015
40
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. 62 5
26007199 2015
41
The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels. 62 5
26021757 2015
42
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. 62 5
25065301 2015
43
Myotonia congenita: novel mutations in CLCN1 gene. 62 5
26260254 2015
44
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? 62 5
25036107 2014
45
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. 62 5
24515601 2014
46
Chloride channels in myotonia congenita assessed by velocity recovery cycles. 62 5
24037712 2014
47
Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita. 62 5
24625573 2014
48
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. 62 5
24304580 2013
49
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. 62 5
23933576 2013
50
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. 62 5
23483815 2013

Variations for Myotonia Congenita

ClinVar genetic disease variations for Myotonia Congenita:

5 (show top 50) (show all 594)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN1 NC_000007.14:g.(?_143324401)_(143331662_?)del DEL Pathogenic
832454 GRCh37: 7:143021494-143028755
GRCh38:
2 CLCN1 NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) SNV Pathogenic
17548 rs121912810 GRCh37: 7:143018811-143018811
GRCh38: 7:143321718-143321718
3 CLCN1 NM_000083.3(CLCN1):c.50_434-202del DEL Pathogenic
580190 GRCh37: 7:143013350-143018251
GRCh38: 7:143316257-143321158
4 CLCN1 NM_000083.3(CLCN1):c.475del (p.Leu159fs) DEL Pathogenic
949837 rs1802428440 GRCh37: 7:143018499-143018499
GRCh38: 7:143321406-143321406
5 CLCN1 NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) INDEL Pathogenic
804707 rs1586484463 GRCh37: 7:143017866-143017866
GRCh38: 7:143320773-143320773
6 CLCN1 NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys) SNV Pathogenic
872915 rs1802715644 GRCh37: 7:143028355-143028355
GRCh38: 7:143331262-143331262
7 CLCN1 NC_000007.13:g.(?_143013355)_143018256del DEL Pathogenic
1074550 GRCh37:
GRCh38:
8 CLCN1 NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) SNV Pathogenic
1324083 GRCh37: 7:143013352-143013352
GRCh38: 7:143316259-143316259
9 CLCN1 NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) SNV Pathogenic
585692 rs1347382107 GRCh37: 7:143018838-143018838
GRCh38: 7:143321745-143321745
10 CLCN1 NM_000083.3(CLCN1):c.2218del (p.Ser740fs) DEL Pathogenic
1388213 GRCh37: 7:143043278-143043278
GRCh38: 7:143346185-143346185
11 CLCN1 NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter) SNV Pathogenic
1381093 GRCh37: 7:143018467-143018467
GRCh38: 7:143321374-143321374
12 CLCN1 NM_000083.3(CLCN1):c.1791_1792del (p.Gln597fs) DEL Pathogenic
1393878 GRCh37: 7:143039230-143039231
GRCh38: 7:143342137-143342138
13 CLCN1 NM_000083.3(CLCN1):c.2595+1G>A SNV Pathogenic
1384014 GRCh37: 7:143047748-143047748
GRCh38: 7:143350655-143350655
14 CLCN1 NM_000083.3(CLCN1):c.989dup (p.Ala331fs) DUP Pathogenic
1403542 GRCh37: 7:143028333-143028334
GRCh38: 7:143331240-143331241
15 CLCN1 NC_000007.13:g.(?_143042594)_(143044062_?)del DEL Pathogenic
1459940 GRCh37: 7:143042594-143044062
GRCh38:
16 CLCN1 NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter) SNV Pathogenic
1434202 GRCh37: 7:143039578-143039578
GRCh38: 7:143342485-143342485
17 CLCN1 NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) SNV Pathogenic
1363119 GRCh37: 7:143021507-143021507
GRCh38: 7:143324414-143324414
18 CLCN1 NC_000007.13:g.(?_143013209)_(143049107_?)del DEL Pathogenic
1429319 GRCh37: 7:143013209-143049107
GRCh38:
19 CLCN1 NM_000083.3(CLCN1):c.1269dup (p.Ile424fs) DUP Pathogenic
1454866 GRCh37: 7:143029832-143029833
GRCh38: 7:143332739-143332740
20 CLCN1 NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) SNV Pathogenic
1459630 GRCh37: 7:143047495-143047495
GRCh38: 7:143350402-143350402
21 CLCN1 NM_000083.3(CLCN1):c.1281del (p.Leu427fs) DEL Pathogenic
1449054 GRCh37: 7:143029846-143029846
GRCh38: 7:143332753-143332753
22 LOC123956257, CLCN1 NM_000083.3(CLCN1):c.2045del (p.Ser682fs) DEL Pathogenic
1453541 GRCh37: 7:143042728-143042728
GRCh38: 7:143345635-143345635
23 CLCN1 NM_000083.3(CLCN1):c.1918del (p.Val640fs) DEL Pathogenic
462826 rs1554438574 GRCh37: 7:143039585-143039585
GRCh38: 7:143342492-143342492
24 LOC123956257, CLCN1 NM_000083.3(CLCN1):c.1966del (p.Glu656fs) DEL Pathogenic
817974 rs1586514992 GRCh37: 7:143042648-143042648
GRCh38: 7:143345555-143345555
25 CLCN1 NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) SNV Pathogenic
840773 rs1803112361 GRCh37: 7:143039593-143039593
GRCh38: 7:143342500-143342500
26 CLCN1 NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) SNV Pathogenic
857226 rs1802763171 GRCh37: 7:143029864-143029864
GRCh38: 7:143332771-143332771
27 CLCN1 NM_000083.3(CLCN1):c.2215_2216del (p.Leu739fs) MICROSAT Pathogenic
963702 rs1803238026 GRCh37: 7:143043273-143043274
GRCh38: 7:143346180-143346181
28 CLCN1 NM_000083.3(CLCN1):c.360del (p.Leu121fs) DEL Pathogenic
1070234 GRCh37: 7:143017813-143017813
GRCh38: 7:143320720-143320720
29 CLCN1 NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) DEL Pathogenic
570543 rs1563084597 GRCh37: 7:143039083-143039084
GRCh38: 7:143341990-143341991
30 CLCN1 NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) SNV Pathogenic
447045 rs201714423 GRCh37: 7:143028708-143028708
GRCh38: 7:143331615-143331615
31 CLCN1 NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) DUP Pathogenic
280103 rs755176513 GRCh37: 7:143048918-143048919
GRCh38: 7:143351825-143351826
32 CLCN1 NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) SNV Pathogenic
Likely Pathogenic
582345 rs749205522 GRCh37: 7:143047703-143047703
GRCh38: 7:143350610-143350610
33 CLCN1 NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) SNV Pathogenic
447058 rs201894078 GRCh37: 7:143039544-143039544
GRCh38: 7:143342451-143342451
34 CLCN1 NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) SNV Pathogenic
489334 rs1554436799 GRCh37: 7:143029524-143029524
GRCh38: 7:143332431-143332431
35 CLCN1 NM_000083.3(CLCN1):c.2596-1G>A SNV Pathogenic
449534 rs771721648 GRCh37: 7:143048686-143048686
GRCh38: 7:143351593-143351593
36 CLCN1 NM_000083.3(CLCN1):c.751del (p.Ser251fs) DEL Pathogenic
657105 rs1586487826 GRCh37: 7:143020456-143020456
GRCh38: 7:143323363-143323363
37 CLCN1 NM_000083.3(CLCN1):c.1357del (p.Arg453fs) DEL Pathogenic
Pathogenic
648711 rs1586499614 GRCh37: 7:143029918-143029918
GRCh38: 7:143332825-143332825
38 CLCN1 NM_000083.3(CLCN1):c.2364+2T>A SNV Pathogenic
280102 rs886041384 GRCh37: 7:143043753-143043753
GRCh38: 7:143346660-143346660
39 CLCN1 NM_000083.3(CLCN1):c.1872del (p.Glu624fs) DEL Pathogenic
861405 rs1424799320 GRCh37: 7:143039540-143039540
GRCh38: 7:143342447-143342447
40 CLCN1 NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) SNV Pathogenic
447072 rs765181341 GRCh37: 7:143021558-143021558
GRCh38: 7:143324465-143324465
41 CLCN1 NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) SNV Pathogenic
447054 rs777685454 GRCh37: 7:143039045-143039045
GRCh38: 7:143341952-143341952
42 CLCN1 NM_000083.3(CLCN1):c.469del (p.Leu157fs) DEL Pathogenic
462831 rs1554434794 GRCh37: 7:143018492-143018492
GRCh38: 7:143321399-143321399
43 CLCN1 NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) SNV Pathogenic
462829 rs1554434400 GRCh37: 7:143016887-143016887
GRCh38: 7:143319794-143319794
44 CLCN1 NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs) DEL Pathogenic
1073619 GRCh37: 7:143039576-143039577
GRCh38: 7:143342483-143342484
45 CLCN1 NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) SNV Pathogenic
429728 rs1131691551 GRCh37: 7:143044040-143044040
GRCh38: 7:143346947-143346947
46 CLCN1 NM_000083.3(CLCN1):c.200_215del (p.Glu67fs) DEL Pathogenic
1075850 GRCh37: 7:143016865-143016880
GRCh38: 7:143319772-143319787
47 CLCN1 CLCN1, TRP433ARG VAR Pathogenic
17549 GRCh37:
GRCh38:
48 CLCN1 NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) SNV Pathogenic
447047 rs756981034 GRCh37: 7:143029826-143029826
GRCh38: 7:143332733-143332733
49 CLCN1 NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) DEL Pathogenic
Pathogenic
279778 rs768119034 GRCh37: 7:143036380-143036393
GRCh38: 7:143339287-143339300
50 CLCN1 NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) SNV Pathogenic
Likely Pathogenic
1339487 GRCh37: 7:143039554-143039554
GRCh38: 7:143342461-143342461

Expression for Myotonia Congenita

Search GEO for disease gene expression data for Myotonia Congenita.

Pathways for Myotonia Congenita

Pathways related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 CACNA1S CLCN1 CLCN3 CLCN4 CLCN5 CLCN7
2
Show member pathways
13 RYR1 CLCNKB CLCN7 CLCN5 CLCN4 CLCN3
3
Show member pathways
12.5 SCN4A RYR1 KCNJ2 KCNE3 DMPK
4
Show member pathways
12.22 SCN4A CLCN7 CLCN5 CLCN4 CLCN3 CLCN1
5
Show member pathways
11.97 RYR1 CLCNKB CLCN7 CLCN5 CLCN4 CLCN3
6
Show member pathways
11.26 CLCNKB CLCN7 CLCN5 CLCN4 CLCN3 CLCN1
7 10.48 RYR1 CACNA1S

GO Terms for Myotonia Congenita

Cellular components related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.02 CLCN1 CLCN3 CLCN4 CLCN5 CLCNKB KCNJ2
2 plasma membrane GO:0005887 10.02 CLCN1 CLCN3 CLCN4 CLCN5 CLCNKB KCNJ2
3 membrane GO:0016020 9.84 CACNA1S CLCN1 CLCN3 CLCN4 CLCN5 CLCN7
4 membrane GO:0016021 9.84 CACNA1S CLCN1 CLCN3 CLCN4 CLCN5 CLCN7
5 synaptic vesicle GO:0008021 9.76 PRRT2 CLCN5 CLCN4 CLCN3
6 chloride channel complex GO:0034707 9.73 CLCNKB CLCN7 CLCN1
7 sarcoplasmic reticulum GO:0016529 9.72 RYR1 DMPK CACNA1S

Biological processes related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 10.1 CLCNKB CLCN7 CLCN5 CLCN4 CLCN3 CLCN1
2 muscle contraction GO:0006936 9.97 CACNA1S CLCN1 RYR1 SCN4A
3 regulation of ion transmembrane transport GO:0034765 9.97 SCN4A KCNJ2 KCNJ18 KCNE3 CLCNKB CLCN1
4 ion transmembrane transport GO:0034220 9.95 RYR1 CLCNKB CLCN5 CLCN4
5 transmembrane transport GO:0055085 9.91 CACNA1S CLCN1 CLCN3 CLCN4 CLCN5 CLCN7
6 cellular response to caffeine GO:0071313 9.76 RYR1 CACNA1S
7 membrane repolarization during action potential GO:0086011 9.73 KCNJ2 KCNE3
8 transepithelial chloride transport GO:0030321 9.71 CLCNKB CLCN7
9 chloride transport GO:0006821 9.65 CLCNKB CLCN7 CLCN5 CLCN4 CLCN3 CLCN1
10 ion transport GO:0006811 9.4 SCN4A RYR1 KCNJ2 KCNJ18 KCNE3 CLCNKB

Molecular functions related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.86 CLCN7 CLCN5 CLCN4 CLCN3
2 solute:proton antiporter activity GO:0015299 9.8 CLCN5 CLCN4 CLCN3
3 chloride channel activity GO:0005254 9.76 CLCN1 CLCN3 CLCN4 CLCN7 CLCNKB
4 ion channel activity GO:0005216 9.67 SCN4A RYR1 CLCN3 CACNA1S
5 voltage-gated ion channel activity GO:0005244 9.61 SCN4A KCNJ2 KCNJ18 KCNE3 CLCNKB CLCN3
6 voltage-gated chloride channel activity GO:0005247 9.4 CLCNKB CLCN7 CLCN5 CLCN4 CLCN3 CLCN1

Sources for Myotonia Congenita

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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